Linked Data
ClinVar Variation Id:
37977
dbSNP Id:
rs80359524
gnomAD v4:
13-32339947-CAT-C
MyVariant Identifiers:
chr13:g.32914087_32914088del (hg19)
chr13:g.32914085_32914086del (hg19)
chr13:g.32339950_32339951del (hg38)
chr13:g.32339948_32339949del (hg38)
PubMed:
PMID:10188893
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32339950_32339951del , CM000675.2:g.32339950_32339951del | GRCh38 |
| NC_000013.10:g.32914087_32914088del , CM000675.1:g.32914087_32914088del | GRCh37 |
| NC_000013.9:g.31812087_31812088del | NCBI36 |
| NG_012772.3:g.29471_29472del , LRG_293:g.29471_29472del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.5595_5596del | ENSP00000434898.2:p.Phe1866TyrfsTer6 | |
| ENST00000528762.2:c.5595_5596del | ENSP00000433168.2:p.Phe1866TyrfsTer6 | |
| ENST00000530893.7:c.5226_5227del | ENSP00000499438.2:p.Phe1743TyrfsTer6 | |
| ENST00000665585.2:c.5595_5596del | ENSP00000499570.2:p.Phe1866TyrfsTer6 | |
| ENST00000666593.2:c.5595_5596del | ENSP00000499256.2:p.Phe1866TyrfsTer6 | |
| ENST00000700202.2:c.5595_5596del | ENSP00000514856.2:p.Phe1866TyrfsTer6 | |
| ENST00000380152.8:c.5595_5596del MANE Select | ENSP00000369497.3:p.Phe1866TyrfsTer6 | |
| ENST00000544455.6:c.5595_5596del | ENSP00000439902.1:p.Phe1866TyrfsTer6 | |
| ENST00000614259.2:c.5595_5596del | ENSP00000506251.1:p.Phe1866TyrfsTer6 | |
| ENST00000680887.1:c.5595_5596del | ENSP00000505508.1:p.Phe1866TyrfsTer6 | |
| ENST00000380152.7:c.5595_5596del | ENSP00000369497.3:p.Phe1866TyrfsTer6 | |
| ENST00000544455.5:c.5595_5596del | ENSP00000439902.1:p.Phe1866TyrfsTer6 | |
| ENST00000614259.1:n.5595_5596del | ||
| NM_000059.3:c.5595_5596del , LRG_293t1:c.5595_5596del | NP_000050.2:p.Phe1866TyrfsTer6 | |
| XM_011535203.1:c.5595_5596del | XP_011533505.1:p.Phe1866TyrfsTer6 | |
| XM_011535204.1:c.5595_5596del | XP_011533506.1:p.Phe1866TyrfsTer6 | |
| XM_011535205.1:c.5595_5596del | XP_011533507.1:p.Phe1866TyrfsTer6 | |
| NM_000059.4:c.5595_5596del MANE Select | NP_000050.3:p.Phe1866TyrfsTer6 |